rs3736309

A SNP in the LOC101927318 gene on chromosome 12. Its most notable genotype is A;G: 0.44x decreased risk for chronic obstructive pulmonary lung disease

Gene
LOC101927318
Location
Chr 1249,964,271 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
16%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;ANot ratednormalTypical · 0.071% of people
  2. A;GMost notableGood0.44x decreased risk for chronic obstructive pulmonary lung diseaseWorth knowing · 2.024% of people
  3. G;GGood0.44x decreased risk for chronic obstructive pulmonary lung diseaseWorth knowing · 2.05% of people

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 10 HapMap populations.

  • AverageA;A 71% A;G 24% G;G 5%
  • European ancestry (Utah)A;A 78% A;G 20% G;G 3%
  • Han Chinese (Beijing)A;A 38% A;G 49% G;G 13%
  • Japanese (Tokyo)A;A 50% A;G 36% G;G 13%
  • African ancestry (Southwest US)A;A 93% A;G 7% G;G 0%
  • Chinese (Denver)A;A 38% A;G 45% G;G 17%
  • Gujarati IndianA;A 58% A;G 41% G;G 1%
  • Luhya (Kenya)A;A 99% A;G <1% G;G 0%
  • Mexican ancestry (Los Angeles)A;A 83% A;G 17% G;G 0%
  • Maasai (Kenya)A;A 97% A;G 3% G;G 0%
  • TuscanA;A 77% A;G 22% G;G 2%

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs3736309 is a SNP in the aquaporin 5 (AQP5) gene. Among other roles, the aquaporin proteins play a critical role in the maintenance of normal lung water homeostasis. A study of 332 Chinese Han Chronic obstructive pulmonary disease (COPD) patients and 373 unrelated, age-matched controls concluded that carriers of a rs3736309(G) allele had a lower risk of COPD than rs3736309(A;A) carriers, with an odds ratio of 0.44 (CI: 0.307-0.631).

Source and license

Adapted from rs3736309 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.